ZFIN Human Disease: neuronal ceroid lipofuscinosis 8 northern epilepsy variant

OBO ID: DOID:0110724

Term Name:	neuronal ceroid lipofuscinosis 8 northern epilepsy variant		Search Ontology:
Synonyms:	EPMR northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant progressive epilepsy with mental retardation, northern epilepsy progressive epilepsy-intellectual disability syndrome, Finnish type
Definition:	A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. (2)
References:	GARD:2163 GARD:4010 ICD10CM:E75.4 OMIM:610003 ORDO:1947
Ontology:	Human Disease ( DOID:0110724 )

Relationships

is a type of:	autosomal recessive disease neuronal ceroid lipofuscinosis autosomal recessive disease neuronal ceroid lipofuscinosis Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CLN8	cln8	Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant	610003

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None